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Cytogenetics > Syndromes And Conditions > Flashcards

Syndromes And Conditions Flashcards

1
Q

Fragile X Syndrome

A 
Xq27.3 
FMR-1 gene
          -mental retardation
          -high arched palate
          -prominent jaw; 
             prominent and elongated ears
          -macroorchidism( large testicles)
          -connective tissue alterations
          -hyperactive behavior
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2
Q

Turners Syndrome

A

45,X

Webbing of the neck, short stature, amenorrhea

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3
Q

Klinefelter

A

47,XXY

Tall stature, sterility, gynecomastia

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4
Q

Patau syndrome

A

47,XX,+13

Severe mental retardation and physical deformities

(Trisomy 13)

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5
Q

Edwards Syndrome

A

47,XX,+18

Severe mental retardation and physical deformities

(Trisomy 18)

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6
Q

Down Syndrome

A

47,XX,+21

Mental retardation, flat face, simian crease

Trisomy 21

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7
Q

Syndromes associated with autosomal deletions and duplications

A

Del(4)(p16)
wolf hirschhorn:
craniofacial defects, “Greek warrior helmet” syndrome.
Pronounced growth and mental retardation

Del(5)(p15)
Cri-du-chat.
Distinctive cry that sounds like a cat,mental retardation, microencephaly

Del(13)(q14)
Retinoblastoma.
Tumors of the retina

Dup(22)(Pter-q11)tetrasomy of 22p.
Cat’s eye.
Coloboma of iris( not round but fissure-like.

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8
Q

Syndromes associated with microdeletions

A

Prader-Willi.
Del(15)(q11-2)70%cases due to paternal deficiency.
Mental retardation, obesity

Angelman
Del(15)(q11-12)70%cases due to maternal deficiency.

Langer-Giedion.
Del(8)(q24) Facial and limb defects.
“Puppet-like”gait, severe mental retardation, paroxysms of laughter, characteristic facies.

Miller-Dieker
Del(17)(p13.3).
Lissencephaly(smooth brain with incomplete development), severe mental retardation.

DiGeorge
Del(22)(pter-q11).
Abnormal defects of the thymus and parathyroids, cardiovascular anomalies.

Aniridia-Wilma tumor.
Del(11)(p13)
Absence of the iris of the eye, mental and growth retardation, tumors of the kidney

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9
Q

What effect does sodium heparin have on cells

A

Prevents clotting

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10
Q

To ensure the maximum spreading of chromosomes during harvest

A

Use warm hypotonic 37C

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11
Q

Clastogens cause chromosome breaks

A

Viruses
Radiation
Chemotherapeutic agents
Toxins

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12
Q

MDS

Myelodysplastic syndromes

A

-5,
del(5q)
critical deleted region: 5q31-32

-7,
del(7q),

+8,

inv(3)(q21q26) Gene: RPN1/MECOM(EV11)
—————————————-
Refractory anemia

Refractory anemia’s with ringed sideroblasts

Refractory anemia with excess of blasts

Refractory anemia with excess of blasts in transformation

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13
Q

Miller-Dieker syndrome

A

del(17)(p13.3)

LIS1

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14
Q

DiGeorge Syndrome

A

del(22)(q11.2)

Velocardiofacial syndrome
VCFs

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15
Q

Prader Willi syndrome

A

del 15 q11-q13

SNRPN

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16
Q

Aniridia-Wilms Tumor

A

del11(p13)

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17
Q

Cats Eye syndrome

A

Extra i(22) (pter-q11)

Has Coloboma of iris

18
Q

Fetus with increased risk for trisomy 18 pattern of serum and analytes

A

Low AFP

Low hCG

Low uE3

19
Q

AML - M2

Acute myeloid leukemia with differentiation

A

t(8;21)(q22;q22)

RUNX1/RUNX1T1

20
Q

APL - M3

Acute promyelocytic leukemia

A

t(15;17)(q22;q11-12)

Good prognosis

21
Q

AML - M4 EO

Acute myelomonocytic leukemia

A

inv(16)(p13q23)

Numerical abnormality that gives us a clue we might have an inverted 16 is additional chromosome 22

22
Q

Acute monocytic leukemia

M5

A

t(9;11)(p22;q23)

And other 11q23 rearrangements

Gene associated:

MLL

Also known as KMT2A

23
Q

Acute erythroleukemia

M6

A

del(5q)

del(7q)

+8

24
Q

Acute Megakaryocytic Leukemia

A

t(1;22)(p13;q13)

25
Q

MPNs

myeloproliferative neoplasms

A

+8

+9

del(13q)

del(17p)

del(20q)

+1q

26
Q

CML

Chronic myelogenous leukemia

A

t(9;22)

BCR 22
Abl 19

Secondary abnormality to show accelerated phase of CML
+8

iso17

+19

der22

Treated with tyrosine kinase inhibitor -Glibic

27
Q

B cell Lymphoma

ALL

A

2p12

t(4;11) common in kids

t(9;22)

t(12;21) common adult.
Require FISH

14q32

22q11

28
Q

T cell Lymphoma

ALL

A

Translocations involving

7p15

7q34

14q11

29
Q

Mantle Cell Lymphoma

A

t(11;14)(q13;q32)

Maybe easy way to remember:
mantle, like mantle on fireplace. Kids would be old enough to reach when they are teenagers, so 11;14.

30
Q

CLL

Chronic lymphocytic leukemia
B cell

Mature cell neoplasm

A

11q22-23 gene ATM

+12 most common

13q14 good prognosis

14q32 gene IGH

17p13 gene P53

31
Q

Multiple myeloma

MM

A

1q rearrangement

t(4;14)

t(6;14)

t(11;14) gene IGH

del(13q) poor indicator

Hyperdiploidy
odd number chromosomes

32
Q

Burkitt’s lymphoma

A

t(8;14)(q24;q23)

t(2;8)(p12;q24)

t(8;22)(q24;q11)

33
Q

Follicular Lymphoma

A

t(14;18)(q32;q21)

Maybe easy way to remember:
f-in Follicular, f-in fourteen

Gene.
14q32 IGH

18q21 BCL2

34
Q

Marginal Zone Lymphoma

A

t(11;18)(q21;q21)

Maybe easy way to remember is it’s opposites, so 11 from Mantle combine with 18 from Follicular so on the periphery of margins.

35
Q

Anaplastic large cell lymphoma

A

t(2;5)(p23;q35)

36
Q

Retinoblastoma

A

del(13)(q14)

Rb1

37
Q

Ewing sarcoma

A

t(11;22)(q24;q12)

38
Q

Williams Syndrome

A

del(7)(q11)

ELN deletion

39
Q

Smith Magenis Syndrome

A

del(17)(q11.2)

SMS

40
Q

Wolf-Hirschorn syndrome

A

del(4)(p16)

WHS

41
Q

Cir-du-chat syndrome

A

del(5)(p15.2)

CSF1R

42
Q

Beckwith-Wiedemann syndrome (BWS)/overgrowth syndrome

A

is often associated with changes in regions of DNA on chromosome 11 called imprinting centers (ICs). ICs control the methylation of several genes that are involved in normal growth
The most common features of BWS include macrosomia (large body size), macroglossia (large tongue), abdominal wall defects, an increased risk for childhood tumors, kidney abnormalities, hypoglycemia (low blood sugar) in the newborn period, and unusual ear creases or pits.

Cytogenetics (13 decks)

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